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2023
Mark Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
Møller, Nanna Bæk ; Boonen, Desirée Sofie ; Feldner, Elisabeth Simone ; Hao, Qin ; Larsen, Martin ; Lænkholm, Anne Vibeke ; Borg, Åke ^LU ; Kvist, Anders ^LU ; Törngren, Therese ^LU and Jensen, Uffe Birk , et al. (2023) In Scientific Reports 13(1).
- Contribution to journal › Article
2022
Mark Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
Thomassen, Mads ; Mesman, Romy L.S. ; Hansen, Thomas V.O. ; Menendez, Mireia ; Rossing, Maria ; Esteban-Sánchez, Ada ; Tudini, Emma ; Törngren, Therese ^LU ; Parsons, Michael T. and Pedersen, Inge S. , et al. (2022) In Human Mutation 43(12). p.1921-1944
- Contribution to journal › Article
2018
Mark The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Moghadasi, Setareh ; Meeks, Huong D. ; Vreeswijk, Maaike P G ; Janssen, Linda A.M. ; Borg, Åke ^LU ; Ehrencrona, Hans ^LU ; Paulsson-Karlsson, Ylva ; Wappenschmidt, Barbara ; Engel, Christoph and Gehrig, Andrea , et al. (2018) In Journal of Medical Genetics 55(1). p.15-20
- Contribution to journal › Article
Mark Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Rebbeck, Timothy R. ; Friebel, Tara M. ; Friedman, Eitan ; Hamann, Ute ; Huo, Dezheng ; Kwong, Ava ; Olah, Edith ; Olopade, Olufunmilayo I. ; Solano, Angela R. and Teo, Soo Hwang , et al. (2018) In Human Mutation 39(5). p.593-620
- Contribution to journal › Article
2017
Mark Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
Hamdi, Yosr ; Soucy, Penny ; Kuchenbaeker, Karoline B. ; Pastinen, Tomi ; Droit, Arnaud ; Lemaçon, Audrey ; Adlard, Julian ; Aittomäki, Kristiina ; Andrulis, Irene L. and Arason, Adalgeir , et al. (2017) In Breast Cancer Research and Treatment 161(1). p.117-134
- Contribution to journal › Article
2016
Mark BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
Nielsen, Henriette Roed ; Nilbert, Mef ^LU ; Petersen, Janne ; Ladelund, Steen ; Thomassen, Mads ; Pedersen, Inge Søkilde ; Hansen, Thomas V O ; Skytte, Anne-Bine ; Borg, Åke ^LU and Therkildsen, Christina (2016) In Familial Cancer 15(4). p.507-512
- Contribution to journal › Article
Mark A 7-gene signature depicts the biochemical profile of early prefibrotic myelofibrosis
Skov, Vibe ; Burton, Mark ; Thomassen, Mads ; Larsen, Thomas Stauffer ; Riley, Caroline H. ; Madelung, Ann Brinch ; Kjær, Lasse ; Bondo, Henrik ; Stamp, Inger and Ehinger, Mats ^LU , et al. (2016) In PLoS ONE 11(8).
- Contribution to journal › Article
Mark Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Rebbeck, Timothy R. ; Friebel, Tara M. ; Mitra, Nandita ; Wan, Fei ; Chen, Stephanie ; Andrulis, Irene L. ; Apostolou, Paraskevi ; Arnold, Norbert ; Arun, Banu K. and Barrowdale, Daniel , et al. (2016) In Breast Cancer Research 18(1).
- Contribution to journal › Article
Mark Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning, Alison M ; Michailidou, Kyriaki ; Kuchenbaecker, Karoline B ; Thompson, Deborah ; French, Juliet D ; Beesley, Jonathan ; Healey, Catherine S ; Kar, Siddhartha ; Pooley, Karen A and Lopez-Knowles, Elena , et al. (2016) In Nature Genetics
- Contribution to journal › Article
Mark BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks, Huong D. ; Song, Honglin ; Michailidou, Kyriaki ; Bolla, Manjeet K. ; Dennis, Joe ; Wang, Qin ; Barrowdale, Daniel ; Frost, Debra ; McGuffog, Lesley and Ellis, Steve , et al. (2016) In Journal of the National Cancer Institute 108(2).
- Contribution to journal › Article

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